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Gut ; 16(10): 796-9, 1975 Oct.
Article in English | MEDLINE | ID: mdl-1081966

ABSTRACT

The ultrastructural appearance of the endoplasmic reticulum of the hepatocytes was found to be normal in a 5-year-old girl with alpha-1-antitrypsin deficiency with the genotype Pi--. The liver ultrastructure of this variant is therefore different from that of alpha-1-antitrypsin deficiency with the genotype PiZZ in which aggregates of an abnormal, unsecreted alpha-1-antitrypsin accumulate in the endoplasmic reticulum of the hepatocytes. The normal appearance of the endoplasmic reticulum in alpha-1-antitrypsin deficiency with the genotype Pi-- is compatible with the hypothesis, in this variant, synthesis of alpha-1-antitrypsin is completely, or nearly completely, absent; an alternative hypothesis would be that an abnormal alpha-1-antitrypsin is produced by the liver and secreted into the plasma, but disappears rapidly from the plasma.


Subject(s)
Liver/ultrastructure , alpha 1-Antitrypsin Deficiency , Carbohydrate Metabolism, Inborn Errors/complications , Child, Preschool , Cytoplasm/ultrastructure , Endoplasmic Reticulum/ultrastructure , Genotype , Humans , Liver/pathology , Lysosomes/ultrastructure , Male , Mannosides/biosynthesis , Mitochondria, Liver/ultrastructure , Vacuoles/ultrastructure , alpha 1-Antitrypsin/biosynthesis , alpha 1-Antitrypsin/blood
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